Human Genome Variation (Feb 2021)

Novel ARG1 variants identified in a patient with arginase 1 deficiency

  • Katsuyuki Yokoi,
  • Yoko Nakajima,
  • Toshihiro Yasui,
  • Makoto Yoshino,
  • Tetsushi Yoshikawa,
  • Hiroki Kurahashi,
  • Tetsuya Ito

DOI
https://doi.org/10.1038/s41439-021-00139-9
Journal volume & issue
Vol. 8, no. 1
pp. 1 – 4

Abstract

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Abstract We report a case of a 13-year-old boy with arginase 1 deficiency carrying a new variant in ARG1. Sanger sequencing identified the compound heterozygous variants: NM_000045.4: c.365G>A (p.Trp122*)/c.820G>A (p.Asp274Asn). Although not previously reported, the p.Asp274Asn variant is predicted to have strong pathogenicity because it is located in a highly conserved domain in the protein core and arginase activity in the patient was below measurement sensitivity.